ABCA7 c.-9A>G

Variant ID: 19-1041352-A-G

NM_019112.3(ABCA7):c.-9A>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs3752229
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



5' Untranslated Region Elements Show High Abundance and Great Variability in Homologous ABCA Subfamily Genes.

International Journal Of Molecular Sciences
Dvorak, Pavel P; Hlavac, Viktor V; Soucek, Pavel P
Publication Date: 2020-11-23

Variant appearance in text: rs3752229
PubMed Link: 33238634
Variant Present in the following documents:
  • Main text
  • ijms-21-08878.pdf
View BVdb publication page



Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One
Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B
Publication Date: 2020

Variant appearance in text: ABCA7: -9A>G; rs3752229
PubMed Link: 32492030
Variant Present in the following documents:
  • pone.0233058.s001.xlsx, sheet 22
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: ABCA7: -9A>G; rs3752229
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ABCA7: -9A>G; rs3752229
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Targeted Sequencing of Alzheimer Disease Genes in African Americans Implicates Novel Risk Variants.

Frontiers In Neuroscience
Logue, Mark W MW; Lancour, Daniel D; Farrell, John J; Simkina, Irina I; Fallin, M Daniele MD; Lunetta, Kathryn L KL; Farrer, Lindsay A LA
Publication Date: 2018

Variant appearance in text: rs3752229
PubMed Link: 30210277
Variant Present in the following documents:
  • Main text
  • fnins-12-00592.pdf
View BVdb publication page



ABCA7 p.G215S as potential protective factor for Alzheimer's disease.

Neurobiology Of Aging
Sassi, Celeste C; Nalls, Michael A MA; Ridge, Perry G PG; Gibbs, Jesse R JR; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Clement, Naomi N; Lord, Jenny J; Turton, James J; Bras, Jose J; Almeida, Maria R MR; , ; Holstege, Henne H; Louwersheimer, Eva E; van der Flier, Wiesje M WM; Scheltens, Philip P; Van Swieten, John C JC; Santana, Isabel I; Oliveira, Catarina C; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J
Publication Date: 2016-10

Variant appearance in text: rs3752229
PubMed Link: 27289440
Variant Present in the following documents:
  • Main text
View BVdb publication page



ABCA7 expression is associated with Alzheimer's disease polymorphism and disease status.

Neuroscience Letters
Vasquez, Jared B JB; Fardo, David W DW; Estus, Steven S
Publication Date: 2013-11-27

Variant appearance in text: rs3752229
PubMed Link: 24141082
Variant Present in the following documents:
  • Main text
View BVdb publication page